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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2637837227
Gene: KRT14
HGNC
NCBI
Linked Data
gnomAD v4:
17-41586290-TCTG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586295_41586297del , CM000679.2:g.41586295_41586297del
GRCh38
NC_000017.10:g.39742547_39742549del , CM000679.1:g.39742547_39742549del
GRCh37
NC_000017.9:g.36996073_36996075del
NCBI36
NG_008624.1:g.5603_5605del
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.525+17_525+19del
MANE Select
ENSP00000167586.6:n.525+17_525+19del
ENST00000167586.6:c.525+17_525+19del
ENSP00000167586.6:n.525+17_525+19del
NM_000526.4:c.525+17_525+19del
NP_000517.2:n.525+17_525+19del
NM_000526.5:c.525+17_525+19del
MANE Select
NP_000517.3:n.525+17_525+19del
Search 100 bp 5'
Search 100 bp 3'